Varaico: Literature-Extracted Genetic Variants

ADAR

643 papers

RefSeq Summary

This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations ...

Pfam Domains

z-alphaaa 135–201UCSCAdenosine deaminase z-alpha domain

z-alphaaa 295–359UCSCAdenosine deaminase z-alpha domain

dsrmaa 504–569UCSCDouble-stranded RNA binding motif

dsrmaa 615–680UCSCDouble-stranded RNA binding motif

dsrmaa 727–792UCSCDouble-stranded RNA binding motif

A_deaminaa 886–1215UCSCAdenosine-deaminase (editase) domain

Gene Aliases

HGNC Name

adenosine deaminase RNA specific

HGNC Previous Symbol

G1P1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001111.5

p.Q29*

c.85C>T

Surrounding Variants

1 paper

NM_001111.5

p.R23_Q28insFs

c.69_82dup14

1 paper

NM_001111.5

p.Q29insFs

c.85_86dupCA

1 paper

NM_001111.5

p.P30S

c.88C>T

1 paper

NM_001111.5

p.Q28E

c.82C>G

1 paper

NM_001111.5

p.Y27F

c.80A>T

1 paper

NM_001111.5

p.Y27S

c.80A>C

4 papers

NM_001111.5

p.R26R

c.78G>A

1 paper

NM_001111.5

p.R26delFs

c.76_77delCT

4 papers

NM_001111.5

p.R26K

c.77G>A

2 papers

NM_001111.5

p.G31G

c.93G>A

3 papers

NM_001111.5

p.P32S

c.94C>T

1 paper

NM_001111.5

p.G31insFs

c.92dupG